Journal of the Neurological Sciences最新文献

{"title":"Defining short-term outcomes of minor ischemic stroke due to small artery occlusion in the era of dual antiplatelet treatment: A READAPT study sub-analysis","authors":"","doi":"10.1016/j.jns.2024.123211","DOIUrl":"10.1016/j.jns.2024.123211","url":null,"abstract":"<div><h3>Background</h3><p>The outcomes of minor ischemic stroke resulting from small artery occlusion (SAO-MIS) have not yet been characterized after dual antiplatelet treatment (DAPT) has become the standard of care. We provided updated figures on the short-term prognosis of SAO-MIS treated with early short-term DAPT and compared the outcomes of SAO-MIS versus non-SAO-MIS patients.</p></div><div><h3>Methods</h3><p>This is a prespecified sub-analysis from a prospective multicentric real-world study (READAPT, <span><span>NCT05476081</span><svg><path></path></svg></span>) including patients with minor (NIHSS≤5) non-cardioembolic ischemic stroke treated with DAPT. The primary outcome was a composite of 90-day symptomatic ischemic stroke or major cardiovascular events. Secondary outcomes were the 90-day ordinal distribution of modified Rankin Scale (mRS) scores, 90-day excellent functional outcome (mRS of 0 to 1), and 24-h early neurological deterioration (END). Safety outcomes were 90-day intracerebral hemorrhage, moderate-to-severe and any bleedings. All outcomes were compared between SAO-MIS and non-SAO-MIS patients.</p></div><div><h3>Results</h3><p>We included 678 MIS, of whom 253 (37.3 %) were SAO-related. At 90 days, 3 patients with SAO-MIS had primary outcome (1.2 % [95 % CI 0.2 %–3.5 %]), which were all SAO-related ischemic strokes. For the secondary outcomes, most SAO-MIS patients (<em>n</em> = 191, 75.5 %) had 90-day excellent functional outcome and 12 had 24-h END (4.7 % [95 % CI 2.5 %–8.3 %]). Referring to safety outcomes, 90-day intracerebral hemorrhage occurred only in one patient with SAO-MIS (0.4 % [95 % CI 0.0 %- 2.2 %]). Compared to non-SAO-MIS, the 90-day risk of recurrent vascular events was significantly lower among SAO-MIS (aHR 0.24 [95 % CI 0.08–0.68]; <em>p</em> = 0.007), while there were not significant differences in other secondary outcomes, nor in the risk of safety events.</p></div><div><h3>Conclusions</h3><p>Our findings show overall favorable short-term prognosis after SAO-MIS treated with DAPT. Future studies should investigate factors associated with residual stroke risk and long-term outcomes of SAO-MIS.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142151793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics of Japanese patients with corticobasal degeneration","authors":"","doi":"10.1016/j.jns.2024.123212","DOIUrl":"10.1016/j.jns.2024.123212","url":null,"abstract":"<div><h3>Introduction</h3><p>Corticobasal degeneration (CBD) is a clinically heterogeneous neurodegenerative disorder, for which pathological investigations are essential for a definitive diagnosis. This study explored the clinical characteristics of Japanese patients with pathologically confirmed CBD.</p></div><div><h3>Methods</h3><p>We reviewed the data of Japanese patients with pathologically confirmed CBD who were consecutively autopsied at our institute. Clinical data were obtained from medical records and clinicopathological conferences.</p></div><div><h3>Results</h3><p>Of the 34 patients initially reviewed, three were excluded because of a lack of detailed clinical data. Of the remaining 31 patients, 16 were men and 15 were women. The mean ages at onset and death were 63.3 ± 6.7 (51–79) years and 69.1 ± 6.9 (54–86), respectively. The median disease duration was 6.0 (2.5–12) years. The clinical phenotypes were as follows: progressive supranuclear palsy syndrome (PSPS; <em>n</em> = 20, 64.5 %), probable or possible corticobasal syndrome (<em>n</em> = 6, 19.4 %), frontal behavioral-spatial syndrome (<em>n</em> = 4, 12.9 %), nonfluent/agrammatic variant of primary progressive aphasia (<em>n</em> = 1, 3.2 %). Furthermore, 28 (90.3 %) patients exhibited dysphagia with a median latency of 3.5 (1.0–10.0) years, and 22 (71.0 %) patients who underwent tube feeding survived longer than those who did not (<em>P</em> = 0.013).</p></div><div><h3>Conclusions</h3><p>Compared with Western populations, a high prevalence of PSPS may be a clinical characteristic of Japanese patients with CBD. Additionally, dysphagia occurs in many patients with early latency and may shorten survival. Tube feeding contributes to the prolonged survival of patients with CBD.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142145897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"C9orf72 repeat expansions in Wakayama: One potential cause of amyotrophic lateral sclerosis in the Kii Peninsula, Japan","authors":"","doi":"10.1016/j.jns.2024.123209","DOIUrl":"10.1016/j.jns.2024.123209","url":null,"abstract":"<div><p>A cluster of cases of amyotrophic lateral sclerosis (ALS) exists in the southern part of the Kii Peninsula in Japan. Although both genetic and environmental factors are thought to be causative, the critical cause of this cluster has not been identified. <em>C9orf72</em> is the most common genetic factor in both familial and sporadic <em>C9orf72</em>-related ALS in people of European ancestry, but it is rare among Japanese populations. However, a previous report revealed that the frequency of <em>C9orf72</em>-related ALS was significantly higher in the cluster area. We evaluated the proportion of <em>C9orf72</em> hexanucleotide repeat expansions in 99 cases of ALS diagnosed in Wakayama Prefecture, including the cluster area, by using repeat-primed polymerase chain reaction and fluorescence fragment length analysis. We found that 2 of the 99 patients (0 % of those with familial ALS and 2.4 % of those with sporadic ALS) had hexanucleotide repeat expansions in <em>C9orf72</em>, and long-read sequencing revealed that these expansions were causative. No expansions were observed among 90 patients with Parkinson's disease or among 90 healthy controls. Haplotype analysis with long-read sequencing data revealed that the two patients with repeat expansions shared the common haplotype with that previously reported in Finnish patients with <em>C9orf72</em>-related ALS, which suggests a founder effect. <em>C9orf72</em> was thought to be a rare causative gene in Japan, but this study revealed that it may be relatively common in Wakayama Prefecture.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142161618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of severe hyposmia and frontal lobe dysfunction in patients with Parkinson's disease","authors":"","doi":"10.1016/j.jns.2024.123205","DOIUrl":"10.1016/j.jns.2024.123205","url":null,"abstract":"<div><h3>Backgrounds and objectives</h3><p>Severe hyposmia (SH) is a prodromal symptom of dementia associated with Parkinson's disease (PD) caused by Lewy bodies deposited in the limbic regions that connect the frontal and temporal lobes. We aimed to clarify the association between hyposmia and frontal lobe dysfunction (FLD) among patients with PD.</p></div><div><h3>Methods</h3><p>Patients with PD and Hoehn &amp; Yahr stage 1–3 at on-periods without apparent dementia were screened. FLD was defined as a score of ≤14 on the Frontal Assessment Battery (FAB). SH was defined as an average recognition threshold &gt;4 in the T&amp;T Olfactometer. For each subscore, a recognition score of ≥4 was defined as SH. We examined whether SH and its subscores were associated with FLD and evaluated which FAB subscore might be lower in PD patients with SH using Poisson regression analysis with a robust variance estimator.</p></div><div><h3>Results</h3><p>We included 189 patients (median age, 68 years; 107 [57 %] male). FLD was observed in 53 (28 %) patients. Multivariable analysis showed that SH (PR 1.789, 95 % confidence intervals (CI) 1.115–2.872, <em>p</em> = 0.016) was associated with FLD. Regarding odor domains, only SH for fruity smells was associated with FLD (PR 1.970, 95 % CI 1.306–2.972, <em>p</em> = 0.001). Patients with SH had a higher subscore only for FAB-1 (similarity [conceptualization], <em>p</em> = 0.030), indicating linguistically mediated executive dysfunction.</p></div><div><h3>Conclusion</h3><p>In patients with PD, SH is associated with FLD, especially with linguistically mediated executive dysfunction. Particularly, SH for fruity smells may be a sensitive indicator of FLD.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142096482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hemorrhagic shock and encephalopathy syndrome: A call for new clinical criteria for early intervention","authors":"","doi":"10.1016/j.jns.2024.123207","DOIUrl":"10.1016/j.jns.2024.123207","url":null,"abstract":"<div><p>Background: Current epidemiological diagnostic criteria for hemorrhagic shock and encephalopathy syndrome (HSES) may not be optimal for early identification in clinical settings. We analyzed the specific timing at which Bacon's criteria were met after encephalopathy onset.</p><p>Methods: This retrospective observational study was conducted at the National Center for Child Health and Development, a quaternary-care facility that receives critically ill patients from a wide geographic area, between January 2014 and December 2023. Cases of HSES were identified using Bacon's criteria. Data on detailed time courses after seizure onset were extracted from medical records. The primary outcome was the time at which Bacon's criteria were met, measured using median values.</p><p>Results: Of the 206 patients with acute encephalopathy, 13 had HSES. Four were excluded due to insufficient data. Only one patient met Bacon's criteria based on initial examinations, while eight met them after presentation. The median time from seizure onset to meeting Bacon's criteria was 4 h. Early diagnostic markers included abnormal blood coagulation, renal dysfunction, and elevated enzyme levels. The median time to initiation of steroid pulse therapy was 11.5 h; it was 9 h for plasma exchange. Irreversible brain damage, indicated by cerebral edema, occurred at a median of 7 h post-seizure.</p><p>Conclusions: The existing criteria fail in the context of early diagnosis. Routine practice should include early blood tests, including those for coagulation abnormalities, for patients with febrile status epilepticus to identify HSES at an early stage. Future research should validate new diagnostic criteria and explore additional interventions.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142122095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The WFN Service page, edition 3","authors":"","doi":"10.1016/j.jns.2024.123200","DOIUrl":"10.1016/j.jns.2024.123200","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142137190","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"C9orf72 gene repeat expansion phenotype profile of motor neurone disease in Portugal","authors":"","doi":"10.1016/j.jns.2024.123208","DOIUrl":"10.1016/j.jns.2024.123208","url":null,"abstract":"<div><h3>Background</h3><p><em>C9orf72</em> gene repeat expansion (C9RE) is the most frequent gene variant associated with amyotrophic lateral sclerosis (ALS). We aimed to study the phenotype of motor neurone disease (MND) patients with C9RE in a Portuguese cohort.</p></div><div><h3>Methods</h3><p>Demographical and clinical data of MND patients with (C9RE+) and without C9RE were compared. ALS al Rating Scale-Revised (ALSFRS-R) and Edinburgh Cognitive and Behavioural ALS Screen (ECAS) were used to evaluate functional and cognitive performance, respectively. Survival analysis was performed using Kaplan Meier log-rank test and Cox proportional hazards model.</p></div><div><h3>Results</h3><p>We included 761 patients of whom 61 (8.0 %) were C9RE+. C9RE+ patients had a higher frequency of ALS (95.1 vs 78.4 %, <em>p</em> = 0.002), and lower frequency of progressive muscular atrophy (3.3 vs 16.7 %, <em>p</em> = 0.006). C9RE+ was associated with earlier age of onset (58.1 vs 62.6 years, <em>p</em> = 0.003) and more frequent MND family history (65.5 vs 11.4 %, <em>p</em> &lt; 0.001). Gender, ethnicity, onset site, diagnostic delay, disease progression rate until diagnosis (ΔF), ALSFRS-R and time until non-invasive ventilation did not differ between groups. Cognitive/behavioural symptoms and ECAS did not differ between groups, except a worse visuospatial score in C9RE+ group (<em>p</em> = 0.035). Death rate was 1.8 and 1.6 times higher in C9RE+ patients with MND and ALS, respectively. Significant survival prognostic factors in C9RE+ group were diagnosis delay (HR = 0.96, 95 %CI 0.92–0.99, <em>p</em> = 0.008) and ΔF (HR = 1.93, 95 %CI 1.26–2.96, <em>p</em> = 0.002).</p></div><div><h3>Conclusion</h3><p>Our study corroborates most previous cohorts' findings, but harbours some singularities regarding onset site, phenotype, and cognitive profile, that contribute to a better understanding of C9RE epidemiology.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142122096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tissue plasminogen activator for acute branch atheromatous disease exhibits transient improvement and worsening","authors":"","doi":"10.1016/j.jns.2024.123201","DOIUrl":"10.1016/j.jns.2024.123201","url":null,"abstract":"<div><h3>Background</h3><p>Tissue plasminogen activator (tPA) is an effective treatment for acute ischemic stroke. Although initial improvement is observed when administered for branch atheromatous disease (BAD), some cases subsequently worsen. Clinical data on the characteristics of these patients is lacking, and the benefits of tPA are unclear.</p></div><div><h3>Objective</h3><p>To analyze rebound cases and elucidate the clinical characteristics and outcomes associated with tPA administration in BAD.</p></div><div><h3>Methods</h3><p>This multicenter retrospective study was conducted in Japan. Worsening after initial improvement of a condition is termed as rebound, and such cases were compared with other types of ischemic stroke in patients with and without rebound. The characteristics of patients with BAD who rebounded were examined.</p></div><div><h3>Results</h3><p>The study included 93 patients. Among the patients who were administered tPA, the NIHSS scores at 24 h and 7 days post-tPA were significantly higher in patients with BAD than in patients with other types of infarcts. The group with BAD exhibited a significantly higher rate of rebound than other groups (37.5 % vs. 0 %, <em>P</em> &lt; 0.001). However, no differences were observed in outcomes between patients who experienced rebound after tPA administration and those who did not.</p></div><div><h3>Conclusions</h3><p>Reevaluation and changing the strategy of tPA use in patients with BAD may be necessary. However, this study does not totally discourage its use, as specific patients can benefit.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142096483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-standing preservation of levodopa response in progressive supranuclear palsy","authors":"","doi":"10.1016/j.jns.2024.123203","DOIUrl":"10.1016/j.jns.2024.123203","url":null,"abstract":"<div><p>The clinical and neuropathological characteristics of progressive supranuclear palsy (PSP) with preservation of levodopa (L-dopa) response are described in this report. We present the case of a 73-year-old Japanese man with a 13-year history of dopa-responsive Parkinsonism and abnormalities observed in metaiodobenzylguanidine (MIBG) myocardial scintigraphy, suggesting Parkinson's disease. However, autopsy results revealed PSP pathology, including tuft-shaped astrocytes and globose-type neurofibrillary tangles, without Lewy body pathology. The degeneration was moderately to severely distributed in the globus pallidus, subthalamic nucleus, and substantia nigra, whereas striatal degeneration was mild. These findings suggest an intact response to L-dopa therapy throughout the patient's lifetime. Pathological examination of cardiac sympathetic nerves revealed intact nerves, suggesting functional involvement in the MIBG abnormality. This study provides further evidence of the clinical and pathological heterogeneity of PSP. Homozygosity for both the rs564309-C allele at <em>TRIM11</em> and the rs2242367-G allele at <em>SLC2A13</em> might have played a protective role. This case indicates a protracted course-PSP, which may hold promise for future treatments.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0022510X24003381/pdfft?md5=08875c0d38e85e755445c734e197e5e0&pid=1-s2.0-S0022510X24003381-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142161617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"AA amyloidosis: An uncommon case presenting with a polyneuropathy","authors":"","doi":"10.1016/j.jns.2024.123204","DOIUrl":"10.1016/j.jns.2024.123204","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142096484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}